Additional evidence to support the role of the 20q13.33 region in susceptibility to autism

摘要

Autism spectrum disorders (ASD) are a group of highly heritable complex neurodevelopmental disorders and identifying its genetic bases has been challenging. Besides monogenic diseases, numerous susceptibility genes and chromosomal abnormalities have been reported in association with autism and studies need to be replicated [Toro et al., 2010]. The susceptibility genes so far identified seem to be involved in the proper establishment of the synaptic cleft, the secretion of surface proteins, the excitation/inhibition balance, or the overall cellular translation processes, suggesting that impacting translation-dependent processes like synaptic plasticity or cell-to-cell connectivity may lead to an ASD phenotype [Bourgeron, 2009; Fassio et al., 2011]. Chromosomal imbalances have been identified by conventional or molecular cytogenetic techniques and account for 10-15% of patients with autism, the most recurrent being the 15qllql3 duplication and gonosomal abnormalities [Martin and Ledbetter, 2007; Sebat et al., 2007; Szatmari et al., 2007; Christian et al., 2008; Marshall et al., 2008; Glessner et al., 2009; Pinto et al., 2010]. Beri-Deixheimer et al. [2007] reported the first case of a de novo 20ql3.33 deletion in a patient with autism. Another patient has been described with autistic behavior, minimal social interaction, and a deletion of the same region, out of a series of six patients with 20ql3.33 microdeletion [Traylor et al., 2010 (subject 2)].